CREBBP c.4120_4122delinsAGC ;(p.G1374S)

Variant ID: 16-3790411-CCC-GCT

NM_004380.2(CREBBP):c.4120_4122delinsAGC;(p.G1374S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Plos One
Brett, Maggie M; McPherson, John J; Zang, Zhi Jiang ZJ; Lai, Angeline A; Tan, Ee-Shien ES; Ng, Ivy I; Ong, Lai-Choo LC; Cham, Breana B; Tan, Patrick P; Rozen, Steve S; Tan, Ene-Choo EC
Publication Date: 2014

Variant appearance in text: CREBBP: G1374S
PubMed Link: 24690944
Variant Present in the following documents:
  • Main text
  • pone.0093409.pdf
View BVdb publication page